Varaico: Literature-Extracted Genetic Variants

SBDS

500 papers

RefSeq Summary

This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiati...

Pfam Domains

SBDS_Naa 14–101UCSCShwachman-Bodian-Diamond syndrome (SBDS) N-terminal domain

SBDS_domain_IIaa 109–170UCSCSBDS protein, domain II

SBDS_Caa 172–239UCSCSBDS protein, C-terminal domain

Gene Aliases

HGNC Name

SBDS ribosome maturation factor

HGNC Alias Symbols

CGI-97; FLJ10917; SWDS; SDO1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016038.4

p.I72V

c.214A>G

Surrounding Variants

7 papers

NM_016038.4

p.L71P

c.212T>C

1 paper

NM_016038.4

p.L71F

c.211C>T

1 paper

NM_016038.4

p.S73T

c.218G>C

1 paper

NM_016038.4

p.D70N

c.208G>A

1 paper

NM_016038.4

p.A74V

c.221C>T

2 papers

NM_016038.4

p.E69K

c.205G>A

1 paper

NM_016038.4

p.K67delFs

c.201delT

1 paper

NM_016038.4

p.F75L

c.225T>A

1 paper

NM_016038.4

p.K68T

c.203A>C

1 paper

NM_016038.4

p.G76R

c.226G>C

1 paper

NM_016038.4

p.G76R

c.226G>A

1 paper

NM_016038.4

p.K68fs

c.202_203fs